HGVS | Genome Assembly |
---|---|
NC_000007.14:g.27095553A>G , CM000669.2:g.27095553A>G | GRCh38 |
NC_000007.13:g.27135172A>G , CM000669.1:g.27135172A>G | GRCh37 |
NC_000007.12:g.27101697A>G | NCBI36 |
NG_011813.1:g.5454T>C | |
NG_033087.1:g.4460A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643460.2:c.360T>C MANE Select | ENSP00000494260.2:p.Ser120= | |
ENST00000343060.4:c.360T>C | ENSP00000343246.4:p.Ser120= | |
ENST00000355633.5:c.354+6T>C | ENSP00000347851.5:n.354+6T>C | |
NM_005522.4:c.360T>C | NP_005513.1:p.Ser120= | |
NM_153620.2:c.354+6T>C | NP_705873.2:n.354+6T>C | |
NM_005522.5:c.360T>C MANE Select | NP_005513.2:p.Ser120= | |
NM_153620.3:c.354+6T>C | NP_705873.3:n.354+6T>C |